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Ethics, Guidelines for Molecular Autopsy in Youth Sudden Death Explored by Texas Team

NEW YORK (GenomeWeb) – In a study published online this week in Genome Research, investigators in Texas delved into the ethical implications of molecular autopsy in cases of sudden death in young people, along with strategies for addressing these concerns.

As part of the Molecular Autopsy Consortium of Houston, a team from Baylor College of Medicine and Harris County Institute for Forensic Sciences came up with a series of recommendations related to molecular autopsy after sudden death in the young, including considerations associated with consent, confidentiality, analytic and validation methods, and disclosure to family members.

"We hope that the recommendations generated by our multidisciplinary consortium will stimulate a more robust national discussion and contribute to the development of consensus standards for the more routine integration of molecular autopsies in cases of sudden death in the young," corresponding author Amy McGuire, director of Baylor's Center for Medical Ethics and Health Policy, and her co-authors wrote.

Molecular autopsy approaches — involving DNA analyses on blood and/or tissues samples taken at autopsy — is being employed more and more often to try to untangle causes of sudden death in young people, the team explained. But while medical examiners or coroners are tasked with investigating these sorts of unexplained deaths, their investigatory obligations could conceivably conflict with privacy, consent, and disclosure guidelines generally associated with genetic tests.

"[U]nder most state laws, the [medical examiner/coroner offices] has a statutory obligation to investigate unexpected deaths and authority to proceed without informing the family about the scope of the investigation," McGuire and her colleagues wrote. "In addition, autopsy reports may be subject to public disclosure requirements that take little or no account of implications for family members, while the protocols for disclosing the genetic results to potentially-affected family members remain conflicted."

Informed by their own genetic search for causes of death in 351 deceased infants, children, and adults younger than 37, the investigators developed a series of recommendations related to everything from confidentiality and family privacy — within the context of state autopsy disclosure laws — to consent and return of results.

In the case of confidentiality, for example, they noted that the same privacy-related disclosure exemptions used to prevent release of some crime scene photographs could also apply to genetic data generated during an autopsy.

The team highlighted the need for genetic/genomic analysis and interpretation standards to reduce false-positive results. In particular, the researchers recommended manual review of relevant databases and literature when interpreting variant data, along with confirmation of apparent variants in a CLIA/CAP setting with Sanger sequencing or other appropriate validation methods.

The authors also noted that discussing genetic tests with family members, though not necessarily required, could balance the responsibility to investigate sudden death with potential impacts on families.

"[A]lthough consent is not legally required to conduct a molecular autopsy," they wrote, "we recommend that, unless it would compromise the death investigation, reasonable effort be made to notify the decedent's family before conducting genomic analysis as an aspect of a death investigation or when a positive result is obtained."

Likewise, the team argued that positive test results should be returned to family members, as should related disease-causing mutations identified in samples that family members provide for validation testing.

The group suggested, however, that coroners or medical examiners should not be required to convey incidental findings to family members, though the chance of encountering such variants is expected to increase as molecular autopsies rely more heavily on exome or genome sequencing.

In the study authors' view, incidental finding return "would exceed the score of [medical examiner/coroner's] professional obligation," since their primary goal is to investigate an unexplained death and because they do not have a physician-patient relationship with deceased individuals' family members.